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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1917860211
Gene: NEUROG3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.69572459_69572461delinsCAG , CM000672.2:g.69572459_69572461delinsCAG
GRCh38
NC_000010.10:g.71332215_71332217delinsCAG , CM000672.1:g.71332215_71332217delinsCAG
GRCh37
NC_000010.9:g.71002221_71002223delinsCAG
NCBI36
NG_021321.1:g.5994_5996delinsCTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000242462.5:c.583_585delinsCTG
MANE Select
ENSP00000242462.4:p.Leu195=
ENST00000242462.4:c.583_585delinsCTG
ENSP00000242462.4:p.Leu195=
NM_020999.3:c.583_585delinsCTG
NP_066279.2:p.Leu195=
XM_017016280.1:c.583_585delinsCTG
XP_016871769.1:p.Leu195=
NM_020999.4:c.583_585delinsCTG
MANE Select
NP_066279.2:p.Leu195=
Search 100 bp 5'
Search 100 bp 3'